Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs200455203
rs200455203
SLC26A4
0.925 0.160 7 107701998 missense variant G/C snv 8.0E-06 1.4E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 14 2007 2014
dbSNP: rs200455203
rs200455203
SLC26A4
0.925 0.160 7 107701998 missense variant G/C snv 8.0E-06 1.4E-05
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.700 1.000 3 2007 2014
dbSNP: rs200455203
rs200455203
SLC26A4
0.925 0.160 7 107701998 missense variant G/C snv 8.0E-06 1.4E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs200455203
rs200455203
SLC26A4
0.925 0.160 7 107701998 missense variant G/C snv 8.0E-06 1.4E-05
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0